Variant report

Variant	rs4553686
Chromosome Location	chr17:67284119-67284120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67278548..67281186-chr17:67283240..67285256,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1476749	1.00[ASN][1000 genomes]
rs16973883	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973905	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17776943	0.95[AMR][1000 genomes]
rs2067851	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496489	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28592152	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4968854	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58324131	0.95[AMR][1000 genomes]
rs60350983	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208451	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225918	0.95[EUR][1000 genomes]
rs73998226	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9302899	0.94[EUR][1000 genomes]
rs9889277	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894965	0.94[ASN][1000 genomes]
rs9895649	1.00[ASN][1000 genomes]
rs9908248	0.95[EUR][1000 genomes]
rs9910364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9912665	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
4	nsv833527	chr17:67240575-67400871	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv575935	chr17:67256162-67327806	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
6	nsv457890	chr17:67264339-67327806	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
7	nsv575936	chr17:67264339-67327806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
8	nsv1063768	chr17:67268342-67311136	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv1799828	chr17:67280310-67309039	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr17:67236800-67298800	Weak transcription	Psoas Muscle	Psoas
3	chr17:67240000-67289200	Weak transcription	Esophagus	oesophagus
4	chr17:67240000-67296000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:67242400-67289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:67243600-67305600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:67244000-67321800	Weak transcription	Right Ventricle	heart
8	chr17:67248000-67284400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:67250000-67289200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:67251600-67289200	Weak transcription	Brain Anterior Caudate	brain
11	chr17:67261400-67322000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:67265000-67289200	Weak transcription	Lung	lung
13	chr17:67265000-67289800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:67266200-67290000	Weak transcription	Fetal Heart	heart
15	chr17:67266200-67310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:67268600-67295400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr17:67270200-67307400	Weak transcription	Colonic Mucosa	Colon
18	chr17:67270600-67289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:67271000-67289200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:67271000-67298600	Weak transcription	Fetal Lung	lung
21	chr17:67271400-67296000	Weak transcription	Fetal Kidney	kidney
22	chr17:67272400-67306400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr17:67272800-67289200	Weak transcription	Pancreas	Pancrea
24	chr17:67274600-67288200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:67275800-67289200	Weak transcription	Fetal Muscle Leg	muscle
26	chr17:67276200-67289200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:67276400-67310600	Weak transcription	Brain Substantia Nigra	brain
28	chr17:67276600-67308800	Weak transcription	Aorta	Aorta
29	chr17:67277200-67289200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:67277600-67285200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr17:67277600-67286000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:67277600-67288600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:67277600-67289000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr17:67277600-67289200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:67277600-67289200	Strong transcription	Liver	Liver
36	chr17:67277600-67293600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:67277800-67284600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr17:67277800-67285000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:67277800-67286000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:67277800-67297000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:67278000-67286200	Strong transcription	Adipose Nuclei	Adipose
42	chr17:67278000-67292000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:67278200-67284600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr17:67278200-67285000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr17:67278200-67286200	Strong transcription	Placenta	Placenta
46	chr17:67278200-67297600	Weak transcription	Brain Hippocampus Middle	brain
47	chr17:67278400-67291000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr17:67278600-67289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:67279400-67287800	Weak transcription	Fetal Intestine Small	intestine
50	chr17:67279400-67308000	Weak transcription	Fetal Muscle Trunk	muscle

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